Illés Zsolt, Trauninger Anita
Pécsi Tudományegyetem, Neurológiai Klinika.
Ideggyogy Sz. 2009 Jul 30;62(7-8):231-43.
Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. According to the natural course, early infantile and late childhood-juvenile-adult cases are known. Respiratory insufficiency, cardiomyopathy, and muscle hypotonia are cardinal symptoms/signs in infantile Pompe's disease, while cardiomyopathy is absent in adult-onset cases. CK levels are always elevated in the sera of infantile patients. Hip-girdle dystrophy and orthopnoe should alert suspicion in adult patients. Diagnosis is established by decreased activity of the enzyme or mutational analysis. Muscle biopsy can be misleading in adult cases due to absence of glycogen in the examined specimen. In this review, we also discuss our experiences obtained by the treatment of three patients.
庞贝氏病是一种由溶酶体α-葡萄糖苷酶缺乏引起的超罕见疾病。目前，它是唯一一种可通过酶替代疗法治疗的遗传性肌肉疾病。根据自然病程，可分为早发型婴儿型和晚发型儿童-青少年-成人型病例。呼吸功能不全、心肌病和肌张力减退是婴儿型庞贝氏病的主要症状/体征，而成人发病型病例不存在心肌病。婴儿型患者血清中的肌酸激酶（CK）水平总是升高。髋带肌营养不良和端坐呼吸应引起成年患者的怀疑。通过酶活性降低或突变分析来确诊。在成人病例中，由于所检查标本中缺乏糖原，肌肉活检可能会产生误导。在本综述中，我们还讨论了治疗三名患者所获得的经验。
